Further Outpatient Care

Further Inpatient Care

Admit patients born with thanatophoric dysplasia to the NICU if survival beyond the immediate newborn period seems possible.

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Transfer

Transfer to a long-term care facility or to hospice palliative care may be required for those affected infants in whom survival is prolonged.

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Complications

Complications can include the following:

Severe growth and developmental delay

Severe neurological impairment - Hydrocephalus, seizure disorder

Marked respiratory insufficiency - Ventilator dependency

Auditory impairment

Joint contractures/Joint hypermobility

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Prognosis

Thanatophoric dysplasia is usually lethal within the first few days of life. Death is due to respiratory failure caused by marked respiratory insufficiency from reduced thoracic capacity and hypoplastic lungs and/or brainstem compression.

Rare survival into early childhood has been reported in a 3.7-year-old female and a 4.7-year-old male.
[14]

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Patient Education

Prenatally, if a fetus is diagnosed with thanatophoric dysplasia, options to discontinue or continue the pregnancy must be discussed with the parents by medical professionals.

If the pregnancy has proceeded beyond the gestational time during which a therapeutic abortion can safely be performed, discuss interventional and palliative medical approaches with the parents to enable planning for when the infant is born.

Genetic counseling can be used to discuss concerns with future family planning.

The authors and editors of Medscape Reference gratefully acknowledge the contributions of previous authors M Carter, MS, and Susan J Gross, MD, FRCS(C), FACOG, FACMG, to the original writing and development of this article.